ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5896A>G (p.Thr1966Ala)

gnomAD frequency: 0.00004  dbSNP: rs780570235
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194670 SCV000246996 uncertain significance not specified 2014-03-18 criteria provided, single submitter clinical testing
Invitae RCV000867286 SCV001008493 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-22 criteria provided, single submitter clinical testing

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